MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Meningomyelocele ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786204030
rs786204030 		0.882 0.080 1 11791276 stop gained C/T snv
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 1999 2004
dbSNP: rs12121543
rs12121543 		0.851 0.240 1 11794614 intron variant C/A snv 0.21
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1476413
rs1476413 		0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs4846049
rs4846049 		0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012